Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

Seyama, R; Tsuchida, N; Okada, Y; Sakata, S; Hamada, K; Azuma, Y; Hamanaka, K; Fujita, A; Koshimizu, E; Miyatake, S; Mizuguchi, T; Makino, S; Itakura, A; Okada, S; Okamoto, N; Ogata, K; Uchiyama, Y; Matsumoto, N

Matsumoto, N (通讯作者)，Yokohama City Univ, Dept Human Genet, Yokohama, Kanagawa, Japan.

JOURNAL OF HUMAN GENETICS, 2022; 67 (3): 157

Abstract

TET3 at 2p13.1 encodes tet methylcytosine dioxygenase 3, a demethylation enzyme that converts 5-methylcytosine to 5-hydroxymethylcytosine. Beck et al.......

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